Structural position:
- Domain Type: Ig
- Aligned Position: 132
- Secondary Structure Element:
- Secondary Structure Region:
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | 1135 |
Ig-4 |
54 | rs551245931 |
0.0595 | -0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/E | 1135 |
Ig-4 |
54 | rs551245931 |
0.0595 | -0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | 1135 |
Ig-4 |
54 | rs551245931 |
0.0595 | -0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Q/E | 1135 |
Ig-4 |
54 | rs551245931 |
0.0595 | -0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-4.0.0 | 6.56625E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | 1135 |
Ig-4 |
54 | None | 0.24 | None | 0.794 | N | 0.18 | 0.094 | 0.143124449307 | gnomAD-4.0.0 | 1.20036E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31255E-06 | 0 | 0 |
| Q/P | 1135 |
Ig-4 |
54 | None | 0.2148 | None | 0.523 | N | 0.282 | 0.309 | 0.239305524855 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.